A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999965



Internal ID18812815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131985656..132601004hg38UCSC Ensembl
Innerchr2:132743229..133358577hg19UCSC Ensembl
Innerchr2:132459699..133075047hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38615349
hg19615349
hg18615349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4081n100
Supporting Variantsnssv3580877
Samples
Known GenesANKRD30BL, GPR39, MIR663B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv999965
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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